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Gene Gene information from NCBI Gene database.
Entrez ID 340562
Gene name Spermidine/spermine N1-acetyl transferase like 1
Gene symbol SATL1
Synonyms (NCBI Gene)
-
Chromosome X
Chromosome location Xq21.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
GO ID Ontology Definition Evidence Reference
GO:0004145 Function Diamine N-acetyltransferase activity IBA
GO:0004145 Function Diamine N-acetyltransferase activity IEA
GO:0016740 Function Transferase activity IEA
GO:0016746 Function Acyltransferase activity IEA
GO:0016747 Function Acyltransferase activity, transferring groups other than amino-acyl groups IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
301129 27992 ENSG00000184788
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86VE3
Protein name Spermidine/spermine N(1)-acetyltransferase-like protein 1 (EC 2.3.1.-)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00583 Acetyltransf_1 541 → 669 Acetyltransferase (GNAT) family Family
Sequence
MNQSGTNQSSLSDSNQAGINQPSTNSLGMNQMDMNQGSASLYEMNQVDMKQPSMSQAGMR
QSGTNLPDINQPDMKQPDTWQLGRSQPGMLQQELSQLVLSKAGISQPDPSQPGPSQSGPS
QSRMRQIGTNQSGMSQPVMQQLDSQSGGSQPSMRQVGTSQLGTSQIGMSQPGTWQTGLSQ
PVLRQPNMSPPGMWQPGVQQPGISQQVPSHPDMSQPGMSQQVPSQPGIRQPDTSQSCKNQ
TDMSQPDANQSSLSDSNQTGIIQPSPSLLGMNQMDMNQWSASLYEMNQVDMKQPSMSQAG
MRQSGTNLPDINQPGMKQPGTWQLGRSQPGMWPQSLSELVLSEASISQPGPPQRAPSQSG
PRQSSTSQAGTNQSGISQPVMWQLDMRQSGGSQPSMRQVGTSQSGTSQIGMSQPGTWQTG
LSQPVPRQPNKSPPGMWQRGMWQPGMSQQVPSQLGMRQPGTSQSSKNQTGMSHPGRGQPG
IWEPGPSQPGLSQQDLNQLVLSQPGLSQPGRSQPSVSQMGMRQTSMDYFQIRHAEAGDCP
EILRLIKELAACENMLDAMELTAADLLRDGFGDNPLFYCLIAEVNDQQKPSGKLTVGFAM
YYFTYDSWTGKVLYLEDFYVTQAYQGLGIGAEMLKRLSQIAITTQCNCMHFLVVIWNQAS
INYYTSRGA
LDLSSEEGWHLFRFNREELLDMAWEE
Sequence length 695
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
1
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Reference Evidence Score
SATL1-related disorder Likely benign; Benign ClinVar —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations